|Institutional Source||Beutler Lab|
|Gene Name||ATPase, Na+/K+ transporting, beta 2 polypeptide|
|Essential gene?||Probably essential (E-score: 0.881)|
|Stock #||R3916 (G1)|
|Chromosomal Location||69599736-69605942 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 69603075 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 93 (V93A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047353 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047889] [ENSMUST00000138694]|
AA Change: V93A
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: V93A
|Meta Mutation Damage Score||0.5147|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for a null mutation exhibit lack of motor coordination, tremors, limb paralysis, enlarged ventricles, photoreceptor degeneration, vacuoles adjoining capillaries of brain stem, thalamus, striatum, and spinal cord, and death at 17-18 days of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp1b2||
(F):5'- GGACGGCAGACATCATTCTTC -3'
(R):5'- CAGATGCCACAGGAGATTGC -3'
(F):5'- GGCAGACATCATTCTTCTGTGC -3'
(R):5'- AGATTGCTCTCCCAGGAAGG -3'